Linked Data
dbSNP Id:
rs201047424
ExAC:
17:39780611 T / C
gnomAD v2:
17-39780611-T-C
gnomAD v3:
17-41624359-T-C
gnomAD v4:
17-41624359-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624359T>C , CM000679.2:g.41624359T>C | GRCh38 |
| NC_000017.10:g.39780611T>C , CM000679.1:g.39780611T>C | GRCh37 |
| NC_000017.9:g.37034137T>C | NCBI36 |
| NG_008625.1:g.5272A>G | |
| NG_009090.2:g.167354A>G , LRG_401:g.167354A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.151A>G MANE Select | ENSP00000308452.8:p.Thr51Ala | |
| ENST00000311208.12:c.151A>G | ENSP00000308452.8:p.Thr51Ala | |
| ENST00000463128.5:c.-312-153A>G | ENSP00000468672.1:n.-312-153A>G | |
| ENST00000491673.1:n.217A>G | ||
| ENST00000540235.5:c.-55A>G | ENSP00000441751.2:n.-55A>G | |
| ENST00000577817.3:c.106A>G | ENSP00000467418.1:p.Thr36Ala | |
| NM_000422.2:c.151A>G | NP_000413.1:p.Thr51Ala | |
| NM_000422.3:c.151A>G MANE Select | NP_000413.1:p.Thr51Ala |